Variant report

Variant	rs6950539
Chromosome Location	chr7:87531120-87531121
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:87505774..87507622-chr7:87530761..87532359,2	K562	blood:
2	chr7:87511336..87513356-chr7:87529885..87531389,2	K562	blood:
3	chr7:87523092..87524794-chr7:87529999..87532273,2	K562	blood:

Variant related genes	Relation type
ENSG00000006634	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10276750	1.00[MEX][hapmap]
rs10282061	1.00[MEX][hapmap]
rs2022161	1.00[MEX][hapmap]
rs56208559	0.84[AFR][1000 genomes]
rs56397035	0.84[AFR][1000 genomes]
rs57593184	1.00[AMR][1000 genomes]
rs59075963	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59696208	1.00[AFR][1000 genomes]
rs59965458	1.00[AMR][1000 genomes]
rs60521777	1.00[AMR][1000 genomes]
rs61056962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61232411	1.00[AMR][1000 genomes]
rs73706908	0.84[AFR][1000 genomes]
rs73706920	0.84[AFR][1000 genomes]
rs73706928	0.84[AFR][1000 genomes]
rs73706931	1.00[AMR][1000 genomes]
rs73706933	1.00[AMR][1000 genomes]
rs73706934	1.00[AMR][1000 genomes]
rs73706936	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73706937	1.00[AMR][1000 genomes]
rs73706938	1.00[AMR][1000 genomes]
rs73706939	1.00[AMR][1000 genomes]
rs73706943	1.00[AMR][1000 genomes]
rs73706945	1.00[AMR][1000 genomes]
rs73706946	1.00[AMR][1000 genomes]
rs73706947	1.00[AMR][1000 genomes]
rs73706949	1.00[AMR][1000 genomes]
rs7801454	1.00[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv464622	chr7:86832603-87541248	Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv607725	chr7:86832603-87541248	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1015862	chr7:87075394-88049798	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv1023352	chr7:87418818-88192925	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv539005	chr7:87418818-88192925	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv888696	chr7:87526944-87594188	Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87506600-87534400	Weak transcription	Gastric	stomach
2	chr7:87506600-87535200	Weak transcription	Esophagus	oesophagus
3	chr7:87506600-87536800	Weak transcription	Lung	lung
4	chr7:87506600-87539600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:87506600-87539600	Weak transcription	Pancreas	Pancrea
6	chr7:87506800-87540400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:87507000-87536400	Weak transcription	Placenta	Placenta
8	chr7:87507200-87531800	Weak transcription	Brain Hippocampus Middle	brain
9	chr7:87507200-87532400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr7:87507200-87534000	Weak transcription	Brain Angular Gyrus	brain
11	chr7:87507200-87537000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:87507200-87538400	Weak transcription	Adipose Nuclei	Adipose
13	chr7:87507200-87539200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr7:87507600-87539400	Weak transcription	Fetal Muscle Leg	muscle
15	chr7:87507800-87532400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:87507800-87532400	Weak transcription	Brain Germinal Matrix	brain
17	chr7:87508000-87535400	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr7:87508000-87535800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr7:87508000-87537400	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr7:87508000-87538200	Weak transcription	Thymus	Thymus
21	chr7:87508200-87537400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:87508200-87538400	Weak transcription	Fetal Brain Female	brain
23	chr7:87508200-87538600	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:87508200-87539000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:87508200-87539200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr7:87508200-87539400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr7:87508200-87539600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:87508400-87534200	Weak transcription	Small Intestine	intestine
29	chr7:87508400-87536000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:87508600-87538600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:87508800-87538000	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr7:87509200-87532800	Weak transcription	Ovary	ovary
33	chr7:87510400-87538600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr7:87511800-87537400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:87512800-87537400	Strong transcription	Dnd41	blood
36	chr7:87513600-87531400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:87513600-87538000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr7:87515200-87538600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr7:87515200-87538600	Weak transcription	Fetal Kidney	kidney
40	chr7:87515600-87536800	Weak transcription	Psoas Muscle	Psoas
41	chr7:87516600-87533000	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr7:87516600-87539600	Weak transcription	Spleen	Spleen
43	chr7:87517600-87532400	Weak transcription	Left Ventricle	heart
44	chr7:87517600-87536000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr7:87517600-87538600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr7:87518600-87536400	Weak transcription	Fetal Heart	heart
47	chr7:87519000-87536800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr7:87521400-87531200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:87521400-87537400	Strong transcription	K562	blood
50	chr7:87522000-87538600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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